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dbVar

Database of genomic structural variation

nsv3411114

Organism: Homo sapiens

Study:nstd162 (Audano et al. 2019)
Variant Type:mobile element deletion
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:117

Description:Absence of a SVA insertion that is present in the reference
Publication(s):Audano et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 384 SVs from 29 studies. See in: genome view

Submitted genomic74,568,843-74,568,959

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3411114	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	74,568,843	74,568,959
nsv3411114	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	73,788,678	73,788,794

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14812354	sva deletion	SAMN02744161	Sequencing	de novo and local sequence assembly	20,941
nssv14812540	sva deletion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631
nssv14812737	sva deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14812943	sva deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14813148	sva deletion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14813995	sva deletion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495
nssv14814366	sva deletion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563
nssv14814870	sva deletion	SAMN06885952	Sequencing	de novo and local sequence assembly	28,070

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14812354	Submitted genomic		NC_000023.11:g.745 68843_74568959del	GRCh38 (hg38)		NC_000023.11	ChrX	74,568,843	74,568,959
nssv14812540	Submitted genomic		NC_000023.11:g.745 68843_74568959del	GRCh38 (hg38)		NC_000023.11	ChrX	74,568,843	74,568,959
nssv14812737	Submitted genomic		NC_000023.11:g.745 68843_74568959del	GRCh38 (hg38)		NC_000023.11	ChrX	74,568,843	74,568,959
nssv14812943	Submitted genomic		NC_000023.11:g.745 68843_74568959del	GRCh38 (hg38)		NC_000023.11	ChrX	74,568,843	74,568,959
nssv14813148	Submitted genomic		NC_000023.11:g.745 68843_74568959del	GRCh38 (hg38)		NC_000023.11	ChrX	74,568,843	74,568,959
nssv14813995	Submitted genomic		NC_000023.11:g.745 68843_74568959del	GRCh38 (hg38)		NC_000023.11	ChrX	74,568,843	74,568,959
nssv14814366	Submitted genomic		NC_000023.11:g.745 68843_74568959del	GRCh38 (hg38)		NC_000023.11	ChrX	74,568,843	74,568,959
nssv14814870	Submitted genomic		NC_000023.11:g.745 68843_74568959del	GRCh38 (hg38)		NC_000023.11	ChrX	74,568,843	74,568,959
nssv14812354	Remapped	Perfect	NC_000023.10:g.737 88678_73788794delN C_000023.10:g.7378 8678_73788794del	GRCh37.p13	First Pass	NC_000023.10	ChrX	73,788,678	73,788,794
nssv14812540	Remapped	Perfect	NC_000023.10:g.737 88678_73788794delN C_000023.10:g.7378 8678_73788794del	GRCh37.p13	First Pass	NC_000023.10	ChrX	73,788,678	73,788,794
nssv14812737	Remapped	Perfect	NC_000023.10:g.737 88678_73788794delN C_000023.10:g.7378 8678_73788794del	GRCh37.p13	First Pass	NC_000023.10	ChrX	73,788,678	73,788,794
nssv14812943	Remapped	Perfect	NC_000023.10:g.737 88678_73788794delN C_000023.10:g.7378 8678_73788794del	GRCh37.p13	First Pass	NC_000023.10	ChrX	73,788,678	73,788,794
nssv14813148	Remapped	Perfect	NC_000023.10:g.737 88678_73788794delN C_000023.10:g.7378 8678_73788794del	GRCh37.p13	First Pass	NC_000023.10	ChrX	73,788,678	73,788,794
nssv14813995	Remapped	Perfect	NC_000023.10:g.737 88678_73788794delN C_000023.10:g.7378 8678_73788794del	GRCh37.p13	First Pass	NC_000023.10	ChrX	73,788,678	73,788,794
nssv14814366	Remapped	Perfect	NC_000023.10:g.737 88678_73788794delN C_000023.10:g.7378 8678_73788794del	GRCh37.p13	First Pass	NC_000023.10	ChrX	73,788,678	73,788,794
nssv14814870	Remapped	Perfect	NC_000023.10:g.737 88678_73788794delN C_000023.10:g.7378 8678_73788794del	GRCh37.p13	First Pass	NC_000023.10	ChrX	73,788,678	73,788,794

Showing 16 of 24

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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